Article
Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review.
American journal of medical genetics. Part A - 1 Aug 2006
Zou Ying S, Van Dyke Daniel L, Thorland Erik C, Chhabra Harinderpal S, Michels Virginia V, Keefe Jeannette G, Lega Melanie A, Feely Molly A, Uphoff Timothy S, Jalal Syed M
Abstract excerpt
Ring chromosome 20 is a rare chromosome disorder characterized by a typical seizure phenotype consisting of complex partial seizures, frequent progression to generalized tonic or tonic-clonic seizures, and nocturnal frontal lobe seizures with frequent episodes of non-convulsive status epilepticus. Development may be normal or mildly delayed, followed by cognitive and behavioral decline after seizure onset. Here,...
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